Что такое "Г3О" при синдроме Прадера-Вилли?


Г3О - гиперфагия, гипотония, гипопигментация и ожирение. У 50% больных, умственное развитие большинства из которых задерживается, определяется делеция длинного плеча 15-й хромосомы. Гены, ответственные за синдром Прадера-Вилли, проявляются в зависимости от импринтинга родителей. Импринтинг - это процесс, при котором экспрессия гена зависит от того, был он унаследован от отца или от матери. Ген, обусловливающий синдром Прадера-Вилли, связан с импринтингом по отцовской линии. Это означает, что утрата отцовской копии приводит к возникновению фенотипа Прадера-Вилли. Близко расположенный участок длинного плеча 15-q хромосомы связан с материнским импринтингом, и утрата материнской копии приводит к развитию синдрома Ангельмана. Синдром Ангельмана характеризуется выраженной задержкой развития, нарушением походки, неадекватным смехом и чрезмерной подвижностью, особенно рук.


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